Looking at rare disease through a nephrologists eyes
By: Barbara Gillespie, MD, MMS, FASN | March 01, 2017
Many of the individual diseases that collectively represent ‘kidney disease’ are themselves rare diseases.
As a physician working in the Office of the Chief Medical & Scientific Officer at QuintilesIMS, I am interested in multiple diseases, and how we can work with many biopharmaceutical companies to help bring medicines to patients in need. As we acknowledge Rare Disease Day this week, I’ve realized that stakeholders may not appreciate that many of the individual diseases that collectively represent ‘kidney disease’ are themselves rare diseases.
These conditions may share common clinical sequelae given their effect of kidney dysfunction (like high blood pressure, or leakage of protein or blood in the urine); but as rare diseases they also share the fact that there have been relatively few clinical trials and actually no drugs approved for specific rare kidney diseases such as Lupus Nephritis, IgA Nephropathy and FSGS (Focal Segmental Glopmerulosclerosis). These rare diseases commonly affect people in the age range of 20-40 years old, a population (often going to school, raising families or thriving in their careers) that we want to cure so they can avoid the need for a kidney transplant or dialysis.
An interesting example of the intersection of kidney disease and rare diseases can be found in the work conducted by the National Registry of Rare Kidney Diseases (RaDaR). This registry represents an initiative from the United Kingdom (UK) Renal Association, with support from additional organizations including the UK Renal Registry, the British Kidney Patient Association, and Kidney Research UK. The goal of the registry is to collect information from patients with certain rare kidney diseases into a central repository. Earlier this year RaDaR recruited its 10,000th patient, a major milestone.
The registry offers benefits to both patients and physicians. For patients, advantages of participation include educational opportunities, and, of considerable importance, the ability to be contacted about future potential clinical trials and patient information events. For physicians, the registry is classed as a research registry, and can therefore be used with no additional ethics or HRA approvals being necessary.
There are ongoing registries for rare glomerular diseases that affect the kidney, including the Nephrotic Syndrome Study Network (“NEPTUNE”), which is part of the larger Rare Clinical Diseases Research Network. There’s also the study for Cure Glomerulonephropathy (CureGN) that is sponsored by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) at the National Institutes for Health (NIH).
For those of us working in the biopharmaceutical industry and involved in the development of new therapies for rare diseases, this is a particularly exciting time. As in all therapeutic and specialty areas, there are multiple areas of research where findings come together in the search for safe and effective therapies for the patients who need them.